Incidental Mutation 'R5134:Mfsd6'
ID 395997
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
MMRRC Submission 042722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5134 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 52695463-52766495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52747515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 450 (Y450C)
Ref Sequence ENSEMBL: ENSMUSP00000122881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]
AlphaFold Q8CBH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000087701
AA Change: Y450C

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: Y450C

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:MFS_1_like 68 144 4.8e-19 PFAM
Pfam:MFS_1 70 162 7e-11 PFAM
Pfam:MFS_2 72 571 3.8e-13 PFAM
Pfam:Nuc_H_symport 424 628 1.1e-11 PFAM
Pfam:MFS_1 453 708 6.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147421
Predicted Effect unknown
Transcript: ENSMUST00000147758
AA Change: Y280C
SMART Domains Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: Y280C

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 163 185 N/A INTRINSIC
transmembrane domain 200 219 N/A INTRINSIC
Pfam:Nuc_H_symport 255 459 1.4e-11 PFAM
Pfam:MFS_1 284 539 6.8e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156876
AA Change: Y450C

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: Y450C

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:MFS_1_like 68 144 6.2e-20 PFAM
Pfam:MFS_1 70 162 1.8e-10 PFAM
low complexity region 258 270 N/A INTRINSIC
transmembrane domain 289 311 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
transmembrane domain 369 388 N/A INTRINSIC
Pfam:Nuc_H_symport 424 628 2.6e-11 PFAM
Pfam:MFS_1 453 707 1.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190228
Meta Mutation Damage Score 0.4018 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 96% (100/104)
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T A 10: 77,161,679 (GRCm39) probably benign Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Ank2 A T 3: 126,757,094 (GRCm39) N1054K possibly damaging Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Aph1a G T 3: 95,802,843 (GRCm39) G148W probably damaging Het
Arsj A G 3: 126,231,803 (GRCm39) D183G probably benign Het
Atg2b A G 12: 105,641,209 (GRCm39) S76P probably damaging Het
Atxn7l1 C A 12: 33,422,875 (GRCm39) N815K probably damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cir1 G A 2: 73,114,847 (GRCm39) R404* probably null Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Cstf2t T A 19: 31,061,494 (GRCm39) D343E probably damaging Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Dhx34 G T 7: 15,952,175 (GRCm39) A150D possibly damaging Het
Dnal4 A T 15: 79,647,766 (GRCm39) V32E possibly damaging Het
Dvl3 G T 16: 20,343,357 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 C T 15: 54,762,726 (GRCm39) R174H probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fer1l6 A T 15: 58,512,003 (GRCm39) D1490V probably damaging Het
Fsd1l A G 4: 53,647,766 (GRCm39) K70E probably benign Het
Galnt12 G A 4: 47,113,818 (GRCm39) A79T probably damaging Het
Galnt17 A T 5: 130,992,873 (GRCm39) M347K probably damaging Het
Glyatl3 A G 17: 41,215,921 (GRCm39) V195A probably benign Het
Gm10770 A T 2: 150,021,480 (GRCm39) probably null Het
Gm5578 A T 6: 112,583,046 (GRCm39) noncoding transcript Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsk3b G A 16: 38,060,882 (GRCm39) R418H probably damaging Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Ighv1-50 T G 12: 115,083,653 (GRCm39) Q22H probably benign Het
Ipcef1 A G 10: 6,869,950 (GRCm39) I150T probably benign Het
Ipp T A 4: 116,372,654 (GRCm39) F228I possibly damaging Het
Itgb7 A G 15: 102,125,842 (GRCm39) C596R probably damaging Het
Kif27 T C 13: 58,438,904 (GRCm39) D1219G possibly damaging Het
Lats1 T A 10: 7,567,575 (GRCm39) D115E probably benign Het
Lpcat3 A G 6: 124,679,493 (GRCm39) N331S probably benign Het
Lrpprc A T 17: 85,058,684 (GRCm39) N725K probably benign Het
Lss T G 10: 76,382,070 (GRCm39) probably benign Het
Mmp21 A T 7: 133,280,742 (GRCm39) V76E probably benign Het
Mtmr11 A T 3: 96,077,223 (GRCm39) Y527F probably damaging Het
Nat10 A T 2: 103,573,638 (GRCm39) F327I probably benign Het
Nfkbiz A T 16: 55,638,863 (GRCm39) M199K probably damaging Het
Nuak1 A G 10: 84,210,214 (GRCm39) Y625H probably benign Het
Odf1 A G 15: 38,226,393 (GRCm39) T98A possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or10g3b T C 14: 52,587,248 (GRCm39) N85S probably benign Het
Or1j4 A T 2: 36,740,488 (GRCm39) L143F probably benign Het
Or4x13 T A 2: 90,231,107 (GRCm39) M34K probably benign Het
Osbpl8 T A 10: 111,124,554 (GRCm39) D705E probably benign Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Paics T C 5: 77,104,669 (GRCm39) probably benign Het
Pax5 A G 4: 44,710,407 (GRCm39) M1T probably null Het
Pck1 A T 2: 172,995,282 (GRCm39) N34I probably benign Het
Pde8b T C 13: 95,223,250 (GRCm39) I335V probably benign Het
Piezo2 A G 18: 63,207,691 (GRCm39) V1440A probably damaging Het
Prr23a4 T C 9: 98,785,793 (GRCm39) S153P probably benign Het
Ptpre T A 7: 135,253,821 (GRCm39) F83Y probably damaging Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rassf6 T A 5: 90,752,225 (GRCm39) probably null Het
Rilp A T 11: 75,403,534 (GRCm39) L325F probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Rprd2 G C 3: 95,672,632 (GRCm39) R924G probably benign Het
Rps6kc1 T A 1: 190,505,845 (GRCm39) D1039V probably damaging Het
Rufy3 G A 5: 88,793,426 (GRCm39) V579I probably benign Het
Serpinc1 A G 1: 160,825,140 (GRCm39) probably null Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
St14 T G 9: 31,006,879 (GRCm39) D649A probably benign Het
Stab2 A G 10: 86,707,674 (GRCm39) probably null Het
Sun3 T C 11: 8,988,287 (GRCm39) T12A probably benign Het
Tdrd6 A G 17: 43,937,101 (GRCm39) Y1316H probably damaging Het
Thbs3 CAGAAG CAG 3: 89,130,409 (GRCm39) probably benign Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Trav14-3 T A 14: 54,000,701 (GRCm39) S17T unknown Het
Trmu T A 15: 85,780,556 (GRCm39) probably null Het
Ttn T A 2: 76,537,586 (GRCm39) T26454S possibly damaging Het
Ubr3 T C 2: 69,850,790 (GRCm39) probably benign Het
Unc5b A T 10: 60,610,879 (GRCm39) V376E probably benign Het
Usp3 T C 9: 66,449,814 (GRCm39) S166G possibly damaging Het
Vldlr C A 19: 27,216,212 (GRCm39) C344* probably null Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdfy3 A C 5: 102,091,969 (GRCm39) Y457D probably damaging Het
Zbtb2 T C 10: 4,319,267 (GRCm39) Y253C possibly damaging Het
Zfp687 A C 3: 94,917,697 (GRCm39) F692V probably damaging Het
Zfp758 A G 17: 22,594,386 (GRCm39) K291E probably damaging Het
Zfp799 A T 17: 33,039,415 (GRCm39) C284S probably damaging Het
Zp1 C A 19: 10,897,926 (GRCm39) C5F probably benign Het
Other mutations in Mfsd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Mfsd6 APN 1 52,747,413 (GRCm39) missense probably damaging 1.00
IGL00820:Mfsd6 APN 1 52,747,465 (GRCm39) missense probably damaging 1.00
IGL01518:Mfsd6 APN 1 52,748,481 (GRCm39) missense probably damaging 1.00
IGL02111:Mfsd6 APN 1 52,747,503 (GRCm39) missense probably damaging 1.00
IGL02517:Mfsd6 APN 1 52,702,436 (GRCm39) splice site probably benign
IGL02687:Mfsd6 APN 1 52,747,834 (GRCm39) missense probably damaging 0.99
IGL02887:Mfsd6 APN 1 52,748,037 (GRCm39) missense probably benign 0.19
IGL02901:Mfsd6 APN 1 52,747,632 (GRCm39) missense probably benign 0.07
IGL03030:Mfsd6 APN 1 52,748,862 (GRCm39) start codon destroyed probably null 1.00
PIT4280001:Mfsd6 UTSW 1 52,700,039 (GRCm39) missense probably benign 0.00
PIT4466001:Mfsd6 UTSW 1 52,748,056 (GRCm39) missense probably benign 0.03
R0043:Mfsd6 UTSW 1 52,747,811 (GRCm39) nonsense probably null
R0113:Mfsd6 UTSW 1 52,748,348 (GRCm39) missense probably damaging 1.00
R0226:Mfsd6 UTSW 1 52,697,849 (GRCm39) intron probably benign
R0302:Mfsd6 UTSW 1 52,748,616 (GRCm39) missense probably damaging 1.00
R0613:Mfsd6 UTSW 1 52,697,855 (GRCm39) intron probably benign
R1126:Mfsd6 UTSW 1 52,748,670 (GRCm39) missense probably benign 0.16
R1368:Mfsd6 UTSW 1 52,747,764 (GRCm39) missense possibly damaging 0.49
R1471:Mfsd6 UTSW 1 52,748,716 (GRCm39) missense probably benign 0.32
R1733:Mfsd6 UTSW 1 52,748,524 (GRCm39) missense probably damaging 1.00
R1768:Mfsd6 UTSW 1 52,699,964 (GRCm39) critical splice donor site probably null
R1951:Mfsd6 UTSW 1 52,748,517 (GRCm39) missense probably damaging 1.00
R2031:Mfsd6 UTSW 1 52,748,013 (GRCm39) missense probably benign 0.04
R2116:Mfsd6 UTSW 1 52,700,134 (GRCm39) missense probably benign 0.21
R2240:Mfsd6 UTSW 1 52,699,978 (GRCm39) missense probably damaging 0.97
R2242:Mfsd6 UTSW 1 52,748,757 (GRCm39) missense probably benign 0.03
R2303:Mfsd6 UTSW 1 52,715,672 (GRCm39) missense probably damaging 0.98
R2382:Mfsd6 UTSW 1 52,747,569 (GRCm39) missense probably benign 0.10
R4568:Mfsd6 UTSW 1 52,702,448 (GRCm39) nonsense probably null
R4801:Mfsd6 UTSW 1 52,748,755 (GRCm39) missense probably benign 0.08
R4802:Mfsd6 UTSW 1 52,748,755 (GRCm39) missense probably benign 0.08
R4958:Mfsd6 UTSW 1 52,700,183 (GRCm39) missense probably damaging 1.00
R5827:Mfsd6 UTSW 1 52,701,551 (GRCm39) missense probably damaging 1.00
R5844:Mfsd6 UTSW 1 52,697,542 (GRCm39) missense probably benign
R6124:Mfsd6 UTSW 1 52,747,411 (GRCm39) missense probably damaging 1.00
R6435:Mfsd6 UTSW 1 52,748,603 (GRCm39) nonsense probably null
R6515:Mfsd6 UTSW 1 52,700,120 (GRCm39) missense probably damaging 1.00
R6874:Mfsd6 UTSW 1 52,699,868 (GRCm39) missense probably benign 0.02
R6878:Mfsd6 UTSW 1 52,747,912 (GRCm39) missense probably damaging 0.98
R7111:Mfsd6 UTSW 1 52,748,917 (GRCm39) splice site probably null
R7170:Mfsd6 UTSW 1 52,701,547 (GRCm39) critical splice donor site probably null
R7242:Mfsd6 UTSW 1 52,748,633 (GRCm39) missense probably damaging 0.98
R7548:Mfsd6 UTSW 1 52,702,446 (GRCm39) missense possibly damaging 0.79
R7664:Mfsd6 UTSW 1 52,748,212 (GRCm39) missense probably benign 0.00
R7686:Mfsd6 UTSW 1 52,701,554 (GRCm39) missense probably benign 0.00
R7747:Mfsd6 UTSW 1 52,715,706 (GRCm39) missense probably benign 0.05
R7763:Mfsd6 UTSW 1 52,747,799 (GRCm39) missense probably benign
R8138:Mfsd6 UTSW 1 52,748,671 (GRCm39) missense probably benign
R8150:Mfsd6 UTSW 1 52,747,800 (GRCm39) missense probably benign 0.00
R8807:Mfsd6 UTSW 1 52,697,706 (GRCm39) critical splice acceptor site probably benign
R8938:Mfsd6 UTSW 1 52,748,454 (GRCm39) missense probably damaging 1.00
R9229:Mfsd6 UTSW 1 52,747,903 (GRCm39) missense probably damaging 1.00
R9276:Mfsd6 UTSW 1 52,747,514 (GRCm39) nonsense probably null
R9480:Mfsd6 UTSW 1 52,699,835 (GRCm39) missense unknown
Z1177:Mfsd6 UTSW 1 52,697,660 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GATATGGCCAATCAACTCAATAAGC -3'
(R):5'- TTCTCATGACCATGGCCCTG -3'

Sequencing Primer
(F):5'- GCCAATCAACTCAATAAGCTTGTGG -3'
(R):5'- ATGACCATGGCCCTGATCGTTG -3'
Posted On 2016-06-21